Nail-Patella syndrome: A case report and anesthetic implications

Hennessey, Trevor; Backman, Steven B.; Meterissian, Sarkis; Schricker, Thomas

doi:10.1007/bf03021712

Cited by 5 publications

(5 citation statements)

References 18 publications

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“…The optic nerve pathology seen in FD predominately involves the maculopapillary bundles, pathologic features shared by some POAG patients (as discussed above) and by patients with mitochondrial disease. 58,59 Another disease with well known vasomotor and autonomic abnormalities is Nail Patella syndrome, 60 a condition that represents a familial form of NTG 61 caused by LMX1B . 62 Interestingly common variants in LMX1B are linked to both NTG and HTG.…”

Section: Text Of Reviewmentioning

confidence: 99%

Vascular and autonomic dysregulation in primary open-angle glaucoma

Pasquale

2016

Current Opinion in Ophthalmology

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Purpose of the review To discuss whether vascular dysfunction and autonomic dysfunction are related to primary open-angle glaucoma stratified by the intraocular pressure (IOP) level (the high tension glaucoma and normal tension glaucoma subtypes). Recent findings Patients with POAG across the spectrum of IOP exhibit a variety of ocular and non-ocular vascular abnormalities. Interestingly common genetic variation in NOS3 and the CAV1/CAV2 genomic regions, which code for proteins involved in setting vascular tone, are associated with POAG. These markers seem to stratify with POAG subtypes by sex or pattern of initial visual field loss. Overall it is clear that there is also cardiovascular autonomic dysfunction in HTG and NTG but it is unclear if this dysfunction is more common in NTG compared to HTG. Summary Overall POAG is likely a heterogeneous disease but stratifying cases by IOP level associated with initial optic nerve damage may be less useful than using other endophenotype approaches. Embracing the evidence suggesting systemic endothelial and autonomic dysfunction are operative in POAG will help move beyond an IOP-centric view of the disease and facilitate “tearing down the wall” that divides treating physicians and a better understanding of POAG pathogenesis.

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Section: Text Of Reviewmentioning

confidence: 99%

Vascular and autonomic dysregulation in primary open-angle glaucoma

Pasquale

2016

Current Opinion in Ophthalmology

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“…In addition, we can find fragile dentition, as well as involvement of the autonomic and peripheral nervous system, with 30% to 40% of patients developing polyneuropathy in childhood or adulthood with potential for autonomic dysfunction because the genetic mutation in LMX1B is related to several changes in the central nervous system [2] including development of mesencephalic and serotonergic dopaminergic neurons in the hindbrain [4], how sympathetic pre-ganglionic neurons in the spinal cord's interiolateral nucleus are stimulated catecholaminergic and serotonergic brainstem, changes in the central nervous system associated with the syndrome can affect the cardiovascular autonomic response [2]. In fact, patients can demonstrate symptoms suggestive of vasomotor dysfunction such as cold extremities and Reynaud's phenomenon [2]. The mutation of the LMX1B gene is associated with abnormalities in the dorsal horn of the spinal cord [4] that would be responsible for the described reports of paresthesia, lethargy and decreased perception of pain and temperature in extremities of the upper limbs [4].…”

Section: Discussionmentioning

confidence: 99%

“…In a previous study in patients with Turner-Kieser Syndrome, 55% reported chronic low back pain due to severe lumbar lordosis or scoliosis, in addition to rare changes in the axial skeleton that included dural ectasia and hidden spina bifida [2], which can complicate the general condition if the patient is parturient.…”

Section: Discussionmentioning

confidence: 99%

“…On the other hand, its characteristic is the clinical tetrade of nail, knees and elbows changes, and the presence of iliac horns [1]. The syndrome can be diagnosed from birth with nail changes, and can also present kidney disease, which ranges from mild proteinuria to renal failure, usually in the third decade of life, being the most serious complication of the disease [2]. In the present case, we highlight the anesthetic difficulty with regards to the mother-fetus binomial, making the technique more difficult.…”

Section: Introductionmentioning

confidence: 99%

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Turner-Kieser Syndrome or Iliac Horn Syndrome, a Challenge for the Anesthesiologist: A Case Report and a Literature Review

Moreira¹,

Barboza²,

Pagano³

et al. 2022

OJAnes

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Turner-Kieser syndrome is a rare genetic disorder, autosomal dominant, which is related to variable gene expression and high penetrance, due to mutations in the LMX1B gene that affects connective tissue. The clinic has characteristics with alterations in nails, knees, elbows, and presence of iliac horns that makes the anesthetic difficult. However, data in the literature needs more research on this area. The present report is a cesarean section under general intravenous anesthesia performed on a 32-week pregnant woman due to the maternal risk of full-term evolution and aims to contribute to the anesthetic management of patients with this syndrome as there are few descriptions in the literature regarding the anesthetic management in Turner-Kieser syndrome. Even being a case report, the syndrome is rare and it is important to be reported to all anesthesiologists becoming aware of its management and to choose the best technique and anticipate possible complications. During general anesthesia, the technique chosen for the case reported here, we emphasize the risks of possible difficulty in intubating and positioning the patient, as well as renal impairment caused by changes in the cardiovascular autonomic response due to the choice of some drugs. Therefore, in the present report, our option was intravenous general anesthesia because of maternal complications, where fast acting drugs without renal metabolism or excretion were selected, resulting in an uneventful anesthetic procedure.

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“…Published reports are sparse and offer little guidance to the anaesthetist and obstetrician [4][5][6][7]. Most reports concern orthopaedic intervention and a single anaesthetic report describes an adverse incident [8].…”

Section: Introductionmentioning

confidence: 99%